Condition: Hyperlipoproteinemia Type IIa


rs144467873 in APOB gene and Hyperlipoproteinemia Type IIa PMID 27765764 2016 Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.

rs769452 in APOE gene and Hyperlipoproteinemia Type IIa PMID 26802169 2016 Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

PMID 24267230 2013 APOE p.Leu167del mutation in familial hypercholesterolemia.

PMID 22949395 2013 Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.

rs11547917 in LDLR gene and Hyperlipoproteinemia Type IIa PMID 7635482 1995 Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.

PMID 7583548 1995 Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 22160468 2012 A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.

PMID 7550239 1995 Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia.

PMID 2726768 1989 Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.

PMID 24636176 2014 Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum.

PMID 25404096 2015 Recommendations for the management of patients with familial hypercholesterolemia.

PMID 21600525 2011 Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.

PMID 1464748 1992 Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.

PMID 9452118 1998 Possible common mutations in the low density lipoprotein receptor gene in Chinese.

PMID 22364837 2012 INTERIM guidelines for the diagnosis and management of familial hypercholesterolaemia.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 25053660 2014 Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.

PMID 8462973 1993 A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.

PMID 11462246 2001 Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.

PMID 10090484 1999 Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.

PMID 10882754 2000 Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.

PMID 1446662 1992 A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.

PMID 10422803 1999 An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).

PMID 22509010 2012 Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.

PMID 9852677 1998 Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.

PMID 9104431 1997 Molecular genetics of familial hypercholesterolaemia in Norway.

PMID 23725921 2013 Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum.

PMID 24418289 2014 Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 1867200 1991 A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.

PMID 17142622 2006 Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

PMID 9259195 1997 Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

PMID 17347910 2007 Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.

PMID 15177124 2004 Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia.

PMID 1734910 1992 Racial differences in the frequencies of scleroderma-related autoantibodies.

PMID 1301956 1992 Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

PMID 20828696 2010 Update of the Portuguese Familial Hypercholesterolaemia Study.

PMID 15241806 2004 Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.

PMID 22883975 2012 Genetic analysis of familial hypercholesterolaemia in Western Australia.

PMID 24249837 2014 Low-density lipoprotein receptor gene mutation analysis and structure-function correlation in an Omani arab family with familial hypercholesterolemia.

PMID 21376320 2011 Array-based resequencing for mutations causing familial hypercholesterolemia.

PMID 21146822 2011 Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan.

PMID 15359125 2004 Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.

PMID 11005141 2000 Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia.

PMID 12417285 2002 Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population.

PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

PMID 11668627 2001 Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.

PMID 15556094 2004 Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective.

PMID 20538126 2010 Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.

PMID 22698793 2012 The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

PMID 19538517 2009 Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia.

PMID 17539906 2007 Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.

PMID 19446849 2009 The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.

PMID 28145427 2017 Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.

PMID 27050191 2016 Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.

PMID 7635461 1995 An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia.

PMID 16542394 2006 Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.

PMID 11373616 2001 Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair.

PMID 11585102 2001 Familial hypercholesterolaemia in Finland: common, rare and mild mutations of the LDL receptor and their clinical consequences. Finnish FH-group.

PMID 15523646 2004 LDL-receptor mutations in Europe.

PMID 19007590 2008 Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting.

PMID 21538688 2011 Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia.

PMID 19411563 2009 Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.

PMID 9767373 1998 Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response.

PMID 8882879 1996 Molecular genetics of familial hypercholesterolemia in Israel.

rs121908036 in LDLR;MIR6886 gene and Hyperlipoproteinemia Type IIa PMID 9259195 1997 Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

PMID 9452118 1998 Possible common mutations in the low density lipoprotein receptor gene in Chinese.

PMID 24636176 2014 Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 2726768 1989 Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.

PMID 9104431 1997 Molecular genetics of familial hypercholesterolaemia in Norway.

PMID 11462246 2001 Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.

PMID 9852677 1998 Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.

PMID 25404096 2015 Recommendations for the management of patients with familial hypercholesterolemia.

PMID 7550239 1995 Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 22364837 2012 INTERIM guidelines for the diagnosis and management of familial hypercholesterolaemia.

PMID 23725921 2013 Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum.

PMID 25053660 2014 Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.

PMID 21600525 2011 Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.

PMID 10882754 2000 Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.

PMID 7635482 1995 Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.

PMID 22160468 2012 A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.

PMID 1867200 1991 A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.

PMID 17347910 2007 Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.

PMID 10090484 1999 Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 24418289 2014 Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.

PMID 10422803 1999 An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).

PMID 8462973 1993 A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.

PMID 1446662 1992 A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.

PMID 7583548 1995 Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.

PMID 17142622 2006 Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

PMID 1464748 1992 Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.

PMID 22509010 2012 Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.

PMID 15177124 2004 Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia.

PMID 20236128 2010 Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.

PMID 27680772 2016 Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations.

PMID 26036859 2016 Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

rs121908043 in MIR6886;LDLR gene and Hyperlipoproteinemia Type IIa PMID 7635482 1995 Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.

PMID 7550239 1995 Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia.

PMID 7583548 1995 Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.

PMID 9259195 1997 Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

PMID 8462973 1993 A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.

PMID 21600525 2011 Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.

PMID 9104431 1997 Molecular genetics of familial hypercholesterolaemia in Norway.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 9452118 1998 Possible common mutations in the low density lipoprotein receptor gene in Chinese.

PMID 9852677 1998 Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 10882754 2000 Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 25053660 2014 Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.

PMID 24418289 2014 Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.

PMID 24636176 2014 Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum.

PMID 23725921 2013 Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum.

PMID 17347910 2007 Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.

PMID 11462246 2001 Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.

PMID 22509010 2012 Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.

PMID 10422803 1999 An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).

PMID 1446662 1992 A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.

PMID 2726768 1989 Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.

PMID 22364837 2012 INTERIM guidelines for the diagnosis and management of familial hypercholesterolaemia.

PMID 1464748 1992 Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.

PMID 15177124 2004 Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia.

PMID 25404096 2015 Recommendations for the management of patients with familial hypercholesterolemia.

PMID 17142622 2006 Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

PMID 22160468 2012 A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.

PMID 1867200 1991 A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.

PMID 10090484 1999 Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.

PMID 28145427 2017 Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.

PMID 20663204 2010 Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.

PMID 14974088 2004 Molecular characterization of familial hypercholesterolemia in German and Greek patients.

PMID 11668627 2001 Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.

PMID 11668640 2001 Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.

PMID 25378237 2015 Functional characterization and classification of frequent low-density lipoprotein receptor variants.

PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

PMID 22698793 2012 The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

PMID 27050191 2016 Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.